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C57BL/6JCya-Pls1em1flox/Cya
Common Name:
Pls1-flox
Product ID:
S-CKO-00271
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Pls1-flox
Strain ID
CKOCMP-102502-Pls1-B6J-VA
Gene Name
Pls1
Product ID
S-CKO-00271
Gene Alias
-
Background
C57BL/6JCya
NCBI ID
102502
Modification
Conditional knockout
Chromosome
9
Phenotype
MGI:104809
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Pls1em1flox/Cya mice (Catalog S-CKO-00271) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000093800
NCBI RefSeq
NM_001033210
Target Region
Exon 3
Size of Effective Region
~1.2 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Pls1, encoding Plastin 1 (also called fimbrin), is an important member of the fimbrin protein family. It functions as an actin-bundling protein in stereocilia, playing a crucial role in auditory reception by providing structural conformity for the perception of auditory stimuli. In fungi, Pls1 tetraspanins are key factors in the penetration of host plants, likely by re-establishing cell polarity in the appressorium [2,7]. In yeast, Pls1 (formerly Ynl097c-b) is a peroxisomal matrix protein regulating lysine biosynthesis [3].

Mutations in PLS1 have been found to cause autosomal-dominant hereditary hearing loss. For instance, the PLS1 c.981 + 1G>A variant in a Chinese family induced exon 8 skipping, leading to hearing loss. Zebrafish with this variant showed abnormal inner ear phenotypes, and silencing PLS1 expression upregulated genes in the PI3K-Akt signaling pathway [1]. In European and Turkish families, different PLS1 mutations (c.805G>A, p.[E269K]; c.713G>T, p.[L238R]; c.383T>C, p.[F128S]) were identified in autosomal-dominant nonsyndromic hearing loss patients. In silico modeling suggested these variants destabilize the actin-binding domain 1, reducing the protein's ability to bind F-actin, and Pls1-/-mice also showed a similar hearing loss phenotype [4,6]. In Botrytis cinerea, knockdown of BcPls1 by exogenous application of dsRNA led to growth retardation, suggesting its role as a virulence gene [5].

In summary, Pls1 is essential for normal hearing in humans and mice, with its mutations causing hearing loss. In fungi, it is involved in host-plant penetration and virulence. Gene-knockout models, such as Pls1-/-mice, have been crucial in revealing the role of Pls1 in hearing-related biological processes and have implications for understanding the pathogenesis of hearing loss.

References:
1. Xu, Liangpu, Wang, Xinrui, Li, Jia, Huang, Hailong, Cao, Hua. 2023. A novel PLS1 c.981+1G>A variant causes autosomal-dominant hereditary hearing loss in a family. In Clinical genetics, 103, 413-423. doi:10.1111/cge.14283. https://pubmed.ncbi.nlm.nih.gov/36537221/
2. Veneault-Fourrey, Claire, Lambou, Karine, Lebrun, Marc-Henri. . Fungal Pls1 tetraspanins as key factors of penetration into host plants: a role in re-establishing polarized growth in the appressorium? In FEMS microbiology letters, 256, 179-84. doi:. https://pubmed.ncbi.nlm.nih.gov/16499604/
3. David, Yotam, Castro, Inês Gomes, Yifrach, Eden, Schuldiner, Maya, Zalckvar, Einat. 2022. Pls1 Is a Peroxisomal Matrix Protein with a Role in Regulating Lysine Biosynthesis. In Cells, 11, . doi:10.3390/cells11091426. https://pubmed.ncbi.nlm.nih.gov/35563734/
4. Morgan, Anna, Koboldt, Daniel C, Barrie, Elizabeth S, Dell'Orco, Daniele, Girotto, Giorgia. 2019. Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss. In Human mutation, 40, 2286-2295. doi:10.1002/humu.23891. https://pubmed.ncbi.nlm.nih.gov/31397523/
5. Spada, Maria, Pugliesi, Claudio, Fambrini, Marco, Palpacelli, Diego, Pecchia, Susanna. 2023. Knockdown of Bmp1 and Pls1 Virulence Genes by Exogenous Application of RNAi-Inducing dsRNA in Botrytis cinerea. In International journal of molecular sciences, 24, . doi:10.3390/ijms24054869. https://pubmed.ncbi.nlm.nih.gov/36902297/
6. Diaz-Horta, Oscar, Bademci, Guney, Tokgoz-Yilmaz, Suna, Farooq, Amjad, Tekin, Mustafa. 2019. Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss. In Clinical genetics, 96, 575-578. doi:10.1111/cge.13626. https://pubmed.ncbi.nlm.nih.gov/31432506/
7. Clergeot, P H, Gourgues, M, Cots, J, Notteghem, J L, Lebrun, M H. . PLS1, a gene encoding a tetraspanin-like protein, is required for penetration of rice leaf by the fungal pathogen Magnaporthe grisea. In Proceedings of the National Academy of Sciences of the United States of America, 98, 6963-8. doi:. https://pubmed.ncbi.nlm.nih.gov/11391010/
Quality Control Standard
Sperm Test

Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.

Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.

Environmental Standards:SPF
Available Region:Global
Source:Cyagen
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